Overview
Our laboratory focuses on the control of breathing and pulmonary mechanics in murine models of several genetic diseases. These genetic diseases include Duchenne Muscular Dystrophy, Pompe Disease, ALS, and Spino-cerebellar ataxia Type 7. We also investigate the ability of gene therapy and neuromodulation to treat respiratory insufficiency in neuromuscular diseases. As a clinician-scientist, my goal is to bring therapy from the bench to the bedside and enhance our research at the bench through observations at the bedside.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Our clinical research focus is on the impact of novel therapies on respiratory function in Duchenne Muscular Dystrophy and Pompe Disease. We study the impact of recent therapies on breathing in these disorders and the impact of social determinants of health on clinical outcome measures.
Current Appointments & Affiliations
Associate Professor of Pediatrics
·
2022 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Chief, Division of Pulmonary and Sleep Medicine
·
2021 - Present
Pediatrics, Pulmonary and Sleep Medicine,
Pediatrics
Associate Professor in Neurobiology
·
2020 - Present
Neurobiology,
Basic Science Departments
Associate Professor in Cell Biology
·
2020 - Present
Cell Biology,
Basic Science Departments
Recent Publications
GAA replacement improves respiratory muscle, neural, and alveolar pathology in the pompe mouse.
Journal Article Respir Physiol Neurobiol · July 2025 Pompe disease is a devastating neuromuscular disorder caused by mutations in the gene GAA. These mutations result in a deficiency of the enzyme acid α-glucosidase (GAA), leading to lysosomal glycogen accumulation in cardiac, skeletal, and smooth muscle, mo ... Full text Link to item CiteProgressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.
Journal Article Epilepsia · March 2025 OBJECTIVE: This study was undertaken to test the following hypotheses in the Atp1a3Mashl/+ mouse (which carries the most common human ATP1A3 (the major subunit of the neuronal Na+/K+-adenosine triphosphatase [ATPase]) mutation, D801N): sudden unexpected de ... Full text Link to item CiteRespiratory pathology in the mdx/utrn-/- mouse: A murine model for Duchenne Muscular Dystrophy (DMD)
Conference Plos One · February 1, 2025 Duchenne muscular dystrophy (DMD) is an X-linked devastating disease caused by a lack of dystrophin which results in progressive muscle weakness. As muscle weakness progresses, respiratory insufficiency and hypoventilation result in significant morbidity a ... Full text CiteRecent Grants
A Phase 3, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy (Start up)
Clinical TrialPrincipal Investigator · Awarded by Pfizer, Inc. · 2025 - 2040A Phase 3, Multinational, Long-Term Follow-Up Study to Evaluate Safety and Efficacy in Subjects Who Have Previously Received SRP-9001 in a Clinical study
Clinical TrialPrincipal Investigator · Awarded by Sarepta Therapeutics, Inc. · 2024 - 2031Registry Study to Observe Long-term Safety of Vamorolone (AGAMREE®) in Patients with Duchenne Muscular Dystrophy
Clinical TrialPrincipal Investigator · Awarded by Catalyst Pharmaceuticals, Inc. · 2024 - 2029View All Grants
Education, Training & Certifications
Queens University Belfast (United Kingdom) ·
2001
M.B.B.S.